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A member asked:
Need expert help here. what are the major causes of sickle cell disease?
A doctor has provided 1 answer
Gene mutation: Sickle cell disease is caused when an individual inherits two mutated copies (one from each parent) of the beta-hemoglobin gene. The specific dna mutation causes a change from glutamic acid to valine at position 6 within the protein, and this changes the biochemical properties of the beta-hemoglobin chains to cause abnormal polymerization under certain conditions (hypoxia, ph change, etc.).
Answered 12/24/2013
4.7k views
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